Hasil Pencarian - Guillem Pintos-Morell

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  1. 1
    Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey

    Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey oleh Miguel-Ángel Barba-Romero, Guillem Pintos-Morell

    Diterbitkan 2016-11-01
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  2. 2
    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

    Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events oleh Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Uma Ramaswami, Michael L. West, Roberto Giugliani

    Diterbitkan 2018-03-01
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  3. 3
    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

    Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis oleh Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos-Morell, Uma Ramaswami, Michael West, Anna Wijatyk, Roberto Giugliani

    Diterbitkan 2015-06-01
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  4. 4
    Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

    Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program oleh Guillem Pintos-Morell, Javier Blasco-Alonso, María L. Couce, Luís G. Gutiérrez-Solana, Encarna Guillén-Navarro, Mar O'Callaghan, Mireia del Toro

    Diterbitkan 2018-06-01
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  5. 5
    The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings

    The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings oleh Raquel Barbero-Herranz, María Garriga-García, Ana Moreno-Blanco, Esther Palacios, Pedro Ruiz-Sala, Saioa Vicente-Santamaría, Sinziana Stanescu, Amaya Belanger-Quintana, Guillem Pintos-Morell, Beatriz Arconada, Rosa del Campo, José Avendaño-Ortiz

    Diterbitkan 2024-08-01
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  6. 6
    Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement

    Transition of patients with metabolic bone disease from paediatric to adult healthcare services: current situation and proposals for improvement oleh Enrique Casado, Carlos Gómez-Alonso, Guillem Pintos-Morell, Rosa Bou-Torrent, Ana Coral Barreda-Bonis, José Vicente Torregrosa, José Jesús Broseta-Monzó, Pedro Arango-Sancho, Sara Chocrón-de-Benzaquen, Yoko Olmedilla-Ishishi, Begoña Soler-López

    Diterbitkan 2023-08-01
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  7. 7
    Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

    Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry oleh Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani

    Diterbitkan 2022-06-01
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  8. 8
    Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis

    Cistinosis en pacientes adolescentes y adultos: Recomendaciones para la atención integral de la cistinosis oleh Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gamez, Judit García-Villoria, Enrique Lara Monteczuma, Pere Leyes, Nieves Martín-Begué, Federico Oppenheimer, Manel Perelló, Guillem Pintos Morell, Roser Torra, Anna Vila Santandreu, Ana Güell, Grupo T-CiS.bcn

    Diterbitkan 2015-05-01
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  9. 9
    Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

    Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis oleh Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gamez, Judit García-Villoria, Enrique Lara Monteczuma, Pere Leyes, Nieves Martín-Begué, Federico Oppenheimer, Manel Perelló, Guillem Pintos Morell, Roser Torra, Anna Vila Santandreu, Ana Güell, Grupo T-CiS.bcn

    Diterbitkan 2015-05-01
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  10. 10
    A 15-Year Perspective of the Fabry Outcome Survey

    A 15-Year Perspective of the Fabry Outcome Survey oleh Roberto Giugliani MD, PhD, Dau-Ming Niu MD, PhD, Uma Ramaswami MD, Michael West MD, Derralynn Hughes MD, Christoph Kampmann MD, PhD, Guillem Pintos-Morell MD, PhD, Kathleen Nicholls MD, Jörn-Magnus Schenk MD, PhD, Michael Beck MD

    Diterbitkan 2016-09-01
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  11. 11
    Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto

    Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto oleh Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gámez, Judit García-Villoria, Enrique Lara, Pere Leyes, Nieves Martín-Begué, Manel Perelló, Guillem Pintos-Morell, Roser Torra, J. Vicens Torregrosa, Sandra Torres-Sierra, Anna Vila-Santandreu, Ana Güell, Grupo T-CiS.bcn

    Diterbitkan 2016-11-01
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  12. 12
    A coordinated transition model for patients with cystinosis: from pediatric to adult care

    A coordinated transition model for patients with cystinosis: from pediatric to adult care oleh Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gámez, Judit García-Villoria, Enrique Lara, Pere Leyes, Nieves Martín-Begué, Manel Perelló, Guillem Pintos-Morell, Roser Torra, J. Vicenç Torregrosa, Sandra Torres-Sierra, Anna Vila-Santandreu, Ana Güell, Grupo T-CiS.bcn

    Diterbitkan 2016-11-01
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  13. 13
    Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders

    Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders oleh Joaquin Seras‐Franzoso, Zamira V. Díaz‐Riascos, José Luis Corchero, Patricia González, Natalia García‐Aranda, Mònica Mandaña, Roger Riera, Ana Boullosa, Sandra Mancilla, Alba Grayston, Marc Moltó‐Abad, Elena Garcia‐Fruitós, Rosa Mendoza, Guillem Pintos‐Morell, Lorenzo Albertazzi, Anna Rosell, Josefina Casas, Antonio Villaverde, Simó Schwartz Jr, Ibane Abasolo

    Diterbitkan 2021-03-01
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  14. 14
    Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience oleh Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo

    Diterbitkan 2021-11-01
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  15. 15
    Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

    Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update oleh Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia

    Diterbitkan 2017-11-01
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  16. 16
    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia oleh Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson

    Diterbitkan 2016-05-01
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  17. 17
    Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomised clinical trialResearch in context

    Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomise... oleh Andrea Alemany, Pere Millat-Martinez, Marc Corbacho-Monné, Clara Suñer, Cristina Galvan-Casas, Caty Carrera, Dan Ouchi, Núria Prat, Jordi Ara, Nuria Nadal, Ricard Riel, Blanca Funollet, Carmen Ojeda-Ciurana, Lluis Esteve Balague, Betlem Salvador-González, Anna Forcada Arcarons, Josep Vidal-Alaball, María Isabel Del Cura-González, Ricardo Rodríguez Barrientos, Rafel Ramos-Blanes, Alberto Alum Bou, Elsa Mondou, Mireia Torres, Neus Campins, Ana Sanz, Yonggiang Tang, Miquel Àngel Rodriguez-Arias, Quique Bassat, Bonaventura Clotet, Oriol Mitjà, Adrià Aguilar-Uroz, Adrià Rosell-García-Ufano, Adrián Escudero Planas, Aida Baelo, Ainhoa Villahoz Martín, Alberto Moreno López, Alberto Roldan Ruiz, Alberto Santana Briongos, Alberto Tejera Bodas, Alejandro Alonso-Vallés, Alejandro Fletes-Pérez, Alejandro Hueso-Mor, Alex Boluda, Alex Santamaria, Alicia Santos Diestro, Almudena Revuelta-Álvarez, Álvaro Moreno Moreno, Ana Ortega de Felipe, Ana Chen-Ye, Ana Blázquez Valerón, Ana Belén Rodríguez Pérez, Ana Laura Tristán Morgalo, Ana Luisa Fernández-Allende, Andrea Bagán-Trejo, Andrés Fernández Juan, Ángel Zalve-Cano, Anna Mateo-Martínez, Antonio Valero Galván, Antonio Egidos-Plaja, Ariadna Jorge, Arturo Fraile Torres, Azahara Maria Pareja Leal, Bárbara Viader Castro, Barbara Fernandez Beato, Barbara Naveira Menchen, Beatriz Martin Poyatos, Beatriz García-Martínez, Belén Rodrigo Testillano, Belen Blanco Tejedor, Blanca López Pérez, Blanca Mencía Hernanz, Camila González-Beiras, Carlos Batres, Carlos Batres, Carmen Nuñez Garcia, Carmen Merino-Rodríguez, Carolina Rodríguez-Gilabert, Celia Bonilla Penedo, Celia Bonilla Penedo, Christian Casado Gomez, Claudia Gonzalez Perez, Claudia Galindo-Tomás, Cristina Peral Bolaños, Cristina Blanco-Montes, Cristina Lupu-Yakovleva, Cristina Lopez Ruiz, Cristina Perez Mayoral, Cristina Fornes, Cristobal Garcia Corrochano, Daniel Gallardo Álvarez, Daniel Navarro Sanz, David Sanz Barrio, Debora Ramet Meseguer, Edna Margarita Vera-Jurado, Eduardo Perez Costa, Eilen Junet Bustillos-Sebastian, Elena Palomar Casado, Elena Dorrego Guerrero, Elena Medina Mateos, Elisa Rebeca Aragón Gaspar, Elisabeth Herrero-Vila, Enriqueta Paez Herrera, Esmeralda Rojas Powel, Esther Robres Medialdea, Esther Vall-Ribalta, Eva Lopez Perez, Felicia Mihaela Fer, Fernanda Vazquez Ángeles, Fernando Tirado Bejarano, Ferran Prats-Domenech, Ferran Borràs Martí, Gabriela Ardila-Mejia, Gèlia Costes, Gema Gómez Arquero, Gemma Flores Mateo, Guillem Pintos-Morell, Helena Mira-Centelles, Ignacio Astola Requena, Ignacio Ortega Martin, Iker Leivas-Gutierrez, Irene Escribano Valenciano, Irene Muñoz Gomez, Irina Ortega, Isabel Montserrat-Lloan, Itziar Gamboa, Jacobo Rodríguez de Torres de Paul, Jordi Cahís, Jordi Muñoz-Martinez, Jorge Iglesias Bermejo, Joselvis Virginia Cejas López, Josep Canudas, Juan Antonio García Lucas, Juan Carlos Martínez-Pino, Juana Torres Martínez, Judit Pujol-Corney, Judith González Jiménez, Júlia Gurí, Julio Labella Martín, Laia Garcia-Cano, Lara Sonsoles Perez Plata, Laura Muñoz Álvaro, Laura Rodríguez Andrés, Laura Vega Ruiz, Laura Cuevas Valiente, Laura Díaz Rodríguez, Laura Puigros, Lavinia Oristina Rciorang, Leticia Escudero, Liliana Figueroa Caballero, Lluna Ferrerfàbrega-Costals, Lucía Costafreda-Hernández, Lucía De-Paúl, Luis González Fernández-Medina, Ma Carmen Moliner Prada, Ma Cristina Berriochoa Martínez de Pisón, Maria Blanco Blasco, Maria Gil Jorge, María Cortijo Caballero, Maria Ubals, Maria Gordillo, Maria Alicia Guilloto López, Maria Concepción Moreno Calvo, María del Rosario Gil García, María Inmaculada Dueñas Román, Maria Josefa Gonzalez Sanchez, María Luisa Nicolás Campoy, Maria Luz González Velayos, Mario Mejías Zori, Mario Oliva Maqueda, Mario Caño de la Cruz, Mariona Palau-Morral, Marta Martín-Muñoz, Marta Cereceda Meca, Marta Díaz Urbina, Martha VerónicaPlazas, Martí Vall-Mayans, Martí Blasco, Mary Jane Chu-Sifuentes, Miguel García de Villasladad Peñaranda, Miguel Hernanz Sotoca, Miguel Iglesias Gonzalez, Miguel Ángel Labrador-Galván, Miguel Rodrigo de Vivar Azcarate, Miquel Gil-Fibla, Miquel Formentí-Pallarés, Mireia Esteve-Tugues, Miriam Juanes Perez, Miriam López Rubio, Mirian Recuero Renales, Mònica Hijós-Rullo, Montserrat Lleonart-Abadia, Nadia Finelli, Naiara Rojas-Bertier, Nataly Reyes-Calderón, Nerea Casado Larrañaga, Nerea Nuria Zurita Castrosin, Noélia Álvarez-Nieto, Nuria Leiva-Mora, Olga Tomillo-Martín, Omar Belghazi, Oriol Buscà, Pablo Mendoza Cediel, Pablo Macedo, Patricia Rodríguez Barroso, Patricia Ruiz Álvarez, Patricia Morales López, Patricia Jimenez Vara de Rey, Paz Lozano Ginés, Pilar Bris Rodriguez, Pilar Martínez-Alamillo, Rafa Salmerón Martínez, Raquel Botello Ariza, Raquel Vaquero Mena, Raquel González-Alonso, Raul Kaczmarczyk, Rita Barnadas Vintró, Rodrigo Hontecillas Martínez, Rosa Ribot-Rodríguez, Rosa Escobar-Sánchez, Rosario Paloma Montes Trinidad, Rubén Martínez Quintana, Ruben Arnay Arrogante, Ruben Berjon Sanchez, Ruben Picazo Navarro, Rubén Bastos, Samuel Martín Molinero, Samuel Dan Israel-Benchaya, Sandra Muñoz-Burguillo, Sandra Rodríguez-Salvador, Sara Avila, Sara Corral Gayubas, Sergio Nuñez Sánchez, Sofía Torres Weber, Susana Encabo Lopez, Teresa Torices Rasines, Valentí Sallas, Verónica Curto-Vicente, Verónica Gómez Hijosa, Verónica Daimiel-Pedrote, Verónica Gozalo, Vicente Barrios López, Virginia Ivette Castillo Montoya, Yuri Espinoza Pérez, María CristinaBerriochoa Martínez de Pisón, David Muñoz Castillo, Carlos Donato, Isabel García García

    Diterbitkan 2023-03-01
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